| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type C1 | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene